Canonical Allele Identifier: CA2788249624
Gene: EGR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62814138_62814139insTGTATATCCACTCAGATTTTGTGTATTTTT , CM000672.2:g.62814138_62814139insTGTATATCCACTCAGATTTTGTGTATTTTT GRCh38
NC_000010.10:g.64573898_64573899insTGTATATCCACTCAGATTTTGTGTATTTTT , CM000672.1:g.64573898_64573899insTGTATATCCACTCAGATTTTGTGTATTTTT GRCh37
NC_000010.9:g.64243904_64243905insTGTATATCCACTCAGATTTTGTGTATTTTT NCBI36
NG_008936.2:g.110762_110763insAAAAATACACAAAATCTGAGTGGATATACA , LRG_239:g.110762_110763insAAAAATACACAAAATCTGAGTGGATATACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411732.4:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000387634.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTy...
ENST00000439032.6:c.1039_1040insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000509775.1:n.1039_1040insAAAAATACACAAAATCTGAGTGGATATAC...
ENST00000637191.2:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000490154.2:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTy...
ENST00000690143.1:c.*431_*432insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000510306.1:n.*431_*432insAAAAATACACAAAATCTGAGTGGATATAC...
ENST00000691610.1:c.538_539insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000509830.1:p.Pro180delinsGlnLysTyrThrLysSerGluTrpIleTy...
ENST00000242480.4:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA MANE Select ENSP00000242480.3:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTy...
ENST00000411732.3:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000387634.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTy...
ENST00000639815.1:n.109-1177_109-1176insAAAAATACACAAAATCTGAGTGGATATACA
ENST00000242480.3:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000242480.3:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTy...
ENST00000411732.2:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000387634.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTy...
ENST00000439032.4:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA ENSP00000402040.1:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTy...
NM_000399.3:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA , LRG_239t1:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA NP_000390.2:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTyrThr
NM_001136177.1:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA NP_001129649.1:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_001136178.1:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA NP_001129650.1:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_001136179.1:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA NP_001129651.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
XM_011539427.1:c.538_539insAAAAATACACAAAATCTGAGTGGATATACA XP_011537729.1:p.Pro180delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
XM_011539428.1:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA XP_011537730.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
XM_011539429.1:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA XP_011537731.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_000399.4:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA NP_000390.2:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTyrThr
NM_001136177.2:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA NP_001129649.1:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_001136179.2:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA NP_001129651.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_001321037.1:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA NP_001307966.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_000399.5:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA MANE Select NP_000390.2:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTyrThr
NM_001136177.3:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA NP_001129649.1:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_001136179.3:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA NP_001129651.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_001321037.2:c.349_350insAAAAATACACAAAATCTGAGTGGATATACA NP_001307966.1:p.Pro117delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...
NM_001136178.2:c.499_500insAAAAATACACAAAATCTGAGTGGATATACA NP_001129650.1:p.Pro167delinsGlnLysTyrThrLysSerGluTrpIleTyrTh...